Canonical Allele Identifier: CA875174118

Gene: OTC

Linked Data

• dbSNP Id: rs1333442118
• gnomAD v4: X-38403537-CTATT-C
• MyVariant Identifiers: chrX:g.38262791_38262794del (hg19) ; chrX:g.38403538_38403541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403543_38403546del , CM000685.2:g.38403543_38403546del	GRCh38
NC_000023.10:g.38262796_38262799del , CM000685.1:g.38262796_38262799del	GRCh37
NC_000023.9:g.38147740_38147743del	NCBI36
NG_008471.1:g.56061_56064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-75_541-72del MANE Select	ENSP00000039007.4:n.541-75_541-72del
ENST00000643344.1:c.*291-75_*291-72del	ENSP00000496606.1:n.*291-75_*291-72del
ENST00000039007.4:c.541-75_541-72del	ENSP00000039007.4:n.541-75_541-72del
ENST00000465127.1:c.172-262578_172-262575del	ENSP00000417050.1:n.172-262578_172-262575del
ENST00000488812.1:n.578-75_578-72del
NM_000531.5:c.541-75_541-72del	NP_000522.3:n.541-75_541-72del
XM_017029556.1:c.541-75_541-72del	XP_016885045.1:n.541-75_541-72del
NM_000531.6:c.541-75_541-72del MANE Select	NP_000522.3:n.541-75_541-72del